A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12671523



Internal ID5336368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:4780814..4807022hg38UCSC Ensembl
Innerchr7:4780814..4807022hg38UCSC Ensembl
Outerchr7:4780314..4807522hg38UCSC Ensembl
chr7:4820445..4846653hg19UCSC Ensembl
Innerchr7:4820445..4846653hg19UCSC Ensembl
Outerchr7:4819945..4847153hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg3826209
hg1926209
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611949
Supporting Variants
SamplesNA18874
Known GenesAP5Z1, MIR4656, RADIL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12671523
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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