A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10637290



Internal ID5601114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:117901380..117909961hg38UCSC Ensembl
Innerchr2:117901394..117909947hg38UCSC Ensembl
Outerchr2:117901366..117909975hg38UCSC Ensembl
chr2:118658956..118667537hg19UCSC Ensembl
Innerchr2:118658970..118667523hg19UCSC Ensembl
Outerchr2:118658942..118667551hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg388582
hg198582
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592146
Supporting Variants
SamplesNA19035
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10637290
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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