A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644725



Internal ID7031477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:52820494..52849196hg38UCSC Ensembl
chr19:53323747..53352449hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3828703
hg1928703
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16086599, essv16086613, essv16086650, essv16086618, essv16086596, essv16086600, essv16086644, essv16086638, essv16086589, essv16086610, essv16086636, essv16086643, essv16086594, essv16086581, essv16086620, essv16086639, essv16086603, essv16086580, essv16086616, essv16086604, essv16086583, essv16086626, essv16086578, essv16086652, essv16086635, essv16086592, essv16086623, essv16086628, essv16086611, essv16086608, essv16086625, essv16086655, essv16086593, essv16086609, essv16086602, essv16086632, essv16086617, essv16086637, essv16086588, essv16086585, essv16086586, essv16086582, essv16086584, essv16086648, essv16086653, essv16086590, essv16086647, essv16086619, essv16086595, essv16086615, essv16086646, essv16086654, essv16086629, essv16086614, essv16086631, essv16086587, essv16086598, essv16086601, essv16086641, essv16086597, essv16086634, essv16086606, essv16086633, essv16086622, essv16086642, essv16086624, essv16086591, essv16086649, essv16086645, essv16086621, essv16086630, essv16086579, essv16086651, essv16086612, essv16086640, essv16086607, essv16086605, essv16086627
SamplesHG03593, HG02072, HG01885, HG03237, HG01860, HG02078, NA18877, HG03558, HG01806, NA19092, NA18959, NA18510, HG03770, HG03135, NA18995, HG03808, HG02595, HG03803, HG02561, HG02512, NA19238, NA18560, HG02502, HG02427, HG03750, NA19209, NA18954, HG03902, NA19091, HG02793, HG04146, HG03990, NA18991, HG01879, HG03491, HG00598, NA19081, HG03775, HG02165, HG02537, HG01889, HG01630, NA20859, HG03631, HG00613, NA18555, HG03006, HG01811, HG02813, HG01444, HG03778, HG03695, NA19090, NA18992, HG03259, HG01598, HG03869, HG00607, HG03870, HG02019, HG01086, NA20897, HG00614, HG01028, HG03849, HG03313, HG02107, HG00186, NA18983, HG02051, NA18984, HG01807, HG03611, NA19063, HG03931, HG03698, HG01786, NA18965
Known GenesZNF28, ZNF468
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644725
Frequency
Sample Size2504
Observed Gain78
Observed Loss0
Observed Complex0
Frequencyn/a


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