A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10763213



Internal ID765029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:174087339..174091608hg38UCSC Ensembl
Innerchr2:174087367..174091580hg38UCSC Ensembl
Outerchr2:174087311..174091636hg38UCSC Ensembl
chr2:174952067..174956336hg19UCSC Ensembl
Innerchr2:174952095..174956308hg19UCSC Ensembl
Outerchr2:174952039..174956364hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg384270
hg194270
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593400
Supporting Variants
SamplesNA18528
Known GenesOLA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10763213
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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