A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594703



Internal ID6982023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:234932329..234934669hg38UCSC Ensembl
Innerchr2:234932333..234934665hg38UCSC Ensembl
Outerchr2:234932325..234934673hg38UCSC Ensembl
chr2:235840973..235843313hg19UCSC Ensembl
Innerchr2:235840977..235843309hg19UCSC Ensembl
Outerchr2:235840969..235843317hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg382341
hg192341
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10883145, essv10883160, essv10883148, essv10883152, essv10883150, essv10883155, essv10883142, essv10883141, essv10883158, essv10883157, essv10883162, essv10883146, essv10883163, essv10883144, essv10883156, essv10883151, essv10883154, essv10883161, essv10883159, essv10883149, essv10883143, essv10883153, essv10883147
SamplesNA19028, HG03548, HG02804, HG03297, NA19190, HG03342, HG03224, NA19038, NA19025, NA19451, NA19437, NA18933, NA19391, NA19327, NA18915, NA20126, HG01889, NA19756, NA19390, HG02982, NA19328, NA18501, NA19438
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594703
Frequency
Sample Size2504
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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