A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12983071



Internal ID4940646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:140268505..140280809hg38UCSC Ensembl
Innerchr7:140269005..140280309hg38UCSC Ensembl
Outerchr7:140267505..140281809hg38UCSC Ensembl
chr7:139968305..139980609hg19UCSC Ensembl
Innerchr7:139968805..139980109hg19UCSC Ensembl
Outerchr7:139967305..139981609hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3812305
hg1912305
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615224
Supporting Variants
SamplesNA12778
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12983071
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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