A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12752178



Internal ID2081472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:41619529..41620679hg38UCSC Ensembl
Innerchr7:41619532..41620676hg38UCSC Ensembl
Outerchr7:41619526..41620682hg38UCSC Ensembl
chr7:41659127..41660277hg19UCSC Ensembl
Innerchr7:41659130..41660274hg19UCSC Ensembl
Outerchr7:41659124..41660280hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg381151
hg191151
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612947
Supporting Variants
SamplesHG01890
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12752178
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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