A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584989



Internal ID6625308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1028446..1038792hg38UCSC Ensembl
chr1:963826..974172hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3810347
hg1910347
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9839595, essv9839606, essv9839609, essv9839581, essv9839616, essv9839607, essv9839621, essv9839605, essv9839614, essv9839587, essv9839591, essv9839592, essv9839617, essv9839584, essv9839596, essv9839613, essv9839602, essv9839597, essv9839599, essv9839594, essv9839620, essv9839615, essv9839618, essv9839603, essv9839586, essv9839588, essv9839593, essv9839589, essv9839600, essv9839619, essv9839601, essv9839610, essv9839598, essv9839580, essv9839585, essv9839590, essv9839611, essv9839612, essv9839582, essv9839583, essv9839604, essv9839608
SamplesHG02140, NA19031, NA19734, NA21113, HG00350, HG01277, NA19149, NA12815, NA18639, NA18993, HG02508, HG01344, HG02277, NA19438, NA18957, HG00130, NA20757, HG01628, NA19700, HG01625, NA18640, NA18747, NA18645, NA19189, NA18525, HG02285, NA18939, NA18749, NA12872, HG01630, HG02484, HG03224, HG01626, HG02134, NA21109, NA19431, NA18946, HG02089, HG01985, NA12874, HG02013, NA19922
Known GenesAGRN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3584989
Frequency
Sample Size2504
Observed Gain42
Observed Loss0
Observed Complex0
Frequencyn/a


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