A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588719



Internal ID6976135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:210427984..210440817hg38UCSC Ensembl
Innerchr1:210427999..210440802hg38UCSC Ensembl
Outerchr1:210427969..210440832hg38UCSC Ensembl
chr1:210601328..210614161hg19UCSC Ensembl
Innerchr1:210601343..210614146hg19UCSC Ensembl
Outerchr1:210601313..210614176hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3812834
hg1912834
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10284526, essv10284535, essv10284529, essv10284515, essv10284517, essv10284540, essv10284532, essv10284546, essv10284534, essv10284547, essv10284520, essv10284553, essv10284552, essv10284548, essv10284531, essv10284522, essv10284519, essv10284551, essv10284527, essv10284541, essv10284550, essv10284530, essv10284544, essv10284524, essv10284543, essv10284545, essv10284521, essv10284539, essv10284525, essv10284549, essv10284538, essv10284542, essv10284523, essv10284518, essv10284536, essv10284533, essv10284516, essv10284554, essv10284528, essv10284537
SamplesHG02339, HG03121, NA19204, HG03300, HG02798, NA19020, NA20332, NA20356, HG03452, HG03485, HG03479, HG03520, HG02634, HG02642, NA19471, NA18864, HG03270, HG03511, NA19403, HG02334, NA19327, NA19717, HG03575, HG03081, HG02445, HG02666, NA19160, NA19095, HG01988, HG03127, HG03084, NA19143, NA19472, NA19468, HG02676, NA19213, HG03401, NA19121, HG01111, HG03439
Known GenesHHAT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588719
Frequency
Sample Size2504
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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