A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10722845



Internal ID724661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:156544329..156544700hg38UCSC Ensembl
Innerchr2:156544329..156544700hg38UCSC Ensembl
Outerchr2:156544002..156545008hg38UCSC Ensembl
chr2:157400841..157401212hg19UCSC Ensembl
Innerchr2:157400841..157401212hg19UCSC Ensembl
Outerchr2:157400514..157401520hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38372
hg19372
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593038
Supporting Variants
SamplesNA20875
Known GenesGPD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10722845
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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