A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643816



Internal ID7030573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17287244..17288920hg38UCSC Ensembl
Innerchr19:17287281..17288884hg38UCSC Ensembl
Outerchr19:17287208..17288957hg38UCSC Ensembl
chr19:17398053..17399729hg19UCSC Ensembl
Innerchr19:17398090..17399693hg19UCSC Ensembl
Outerchr19:17398017..17399766hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg381677
hg191677
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16003605, essv16003591, essv16003612, essv16003607, essv16003604, essv16003601, essv16003576, essv16003584, essv16003596, essv16003585, essv16003578, essv16003597, essv16003582, essv16003586, essv16003580, essv16003611, essv16003606, essv16003590, essv16003588, essv16003581, essv16003592, essv16003593, essv16003598, essv16003599, essv16003595, essv16003609, essv16003594, essv16003579, essv16003577, essv16003587, essv16003589, essv16003608, essv16003602, essv16003600, essv16003610, essv16003583, essv16003603
SamplesHG02339, HG02496, HG02583, NA19092, HG03190, NA19393, HG03100, HG02888, HG03133, NA18519, HG03452, HG03499, HG02922, NA19041, HG02561, NA20412, NA20127, HG02439, NA19908, HG03132, HG01882, NA19663, NA19257, NA19395, HG02675, NA19035, NA19308, NA19206, NA19019, NA19454, NA20351, HG02314, HG02274, NA19475, HG02771, NA19143, NA19438
Known GenesANKLE1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643816
Frequency
Sample Size2504
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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