A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3609771



Internal ID6996691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:83025723..83027312hg38UCSC Ensembl
Innerchr6:83025773..83027262hg38UCSC Ensembl
Outerchr6:83025603..83027432hg38UCSC Ensembl
chr6:83735442..83737031hg19UCSC Ensembl
Innerchr6:83735492..83736981hg19UCSC Ensembl
Outerchr6:83735322..83737151hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg381590
hg191590
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12453957, essv12453958, essv12453961, essv12453951, essv12453955, essv12453950, essv12453959, essv12453954, essv12453953, essv12453956, essv12453960, essv12453952, essv12453949
SamplesNA19448, HG03091, NA19404, NA19372, NA18864, NA18499, HG03451, NA19225, NA19072, NA19380, NA19144, NA19467, NA20357
Known GenesUBE3D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3609771
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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