A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592564



Internal ID6979891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:134837673..134838729hg38UCSC Ensembl
Innerchr2:134837681..134838722hg38UCSC Ensembl
Outerchr2:134837666..134838737hg38UCSC Ensembl
chr2:135595243..135596299hg19UCSC Ensembl
Innerchr2:135595251..135596292hg19UCSC Ensembl
Outerchr2:135595236..135596307hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg381057
hg191057
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10682896, essv10682898, essv10682904, essv10682901, essv10682895, essv10682902, essv10682893, essv10682900, essv10682890, essv10682897, essv10682891, essv10682894, essv10682899, essv10682903, essv10682892
SamplesNA20891, HG03965, HG03237, NA07357, HG03680, NA20900, HG01083, NA21108, HG02736, HG03908, NA20876, HG03660, NA20851, HG02682, HG02685
Known GenesACMSD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592564
Frequency
Sample Size2504
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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