A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12671544



Internal ID3170820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:4897082..4911190hg38UCSC Ensembl
Innerchr7:4897082..4911190hg38UCSC Ensembl
Outerchr7:4896582..4911690hg38UCSC Ensembl
chr7:4936713..4950821hg19UCSC Ensembl
Innerchr7:4936713..4950821hg19UCSC Ensembl
Outerchr7:4936213..4951321hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg3814109
hg1914109
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611955
Supporting Variants
SamplesHG02789
Known GenesMMD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12671544
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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