A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646910



Internal ID6686966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:33652033..33653108hg38UCSC Ensembl
Innerchr21:33652033..33653108hg38UCSC Ensembl
Outerchr21:33651712..33653326hg38UCSC Ensembl
chr21:35024339..35025414hg19UCSC Ensembl
Innerchr21:35024339..35025414hg19UCSC Ensembl
Outerchr21:35024018..35025632hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg381076
hg191076
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16313614, essv16313611, essv16313619, essv16313617, essv16313618, essv16313622, essv16313623, essv16313608, essv16313615, essv16313612, essv16313621, essv16313616, essv16313624, essv16313613, essv16313625, essv16313610, essv16313620, essv16313609
SamplesNA19204, NA19399, HG03517, NA20321, HG02811, NA20320, HG03079, NA19917, NA19445, HG02090, NA19043, HG02817, HG03367, HG01396, NA19475, HG03039, NA19146, HG03198
Known GenesITSN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646910
Frequency
Sample Size2504
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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