A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10416068



Internal ID417884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:15024706..15348523hg38UCSC Ensembl
Innerchr2:15024744..15348486hg38UCSC Ensembl
Outerchr2:15024669..15348561hg38UCSC Ensembl
chr2:15164830..15488647hg19UCSC Ensembl
Innerchr2:15164868..15488610hg19UCSC Ensembl
Outerchr2:15164793..15488685hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg38323818
hg19323818
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589906
Supporting Variants
SamplesHG01997
Known GenesNBAS
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10416068
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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