A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13031723



Internal ID3180792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:154918002..154922348hg38UCSC Ensembl
Innerchr7:154918002..154922348hg38UCSC Ensembl
Outerchr7:154917824..154922389hg38UCSC Ensembl
chr7:154709712..154714058hg19UCSC Ensembl
Innerchr7:154709712..154714058hg19UCSC Ensembl
Outerchr7:154709534..154714099hg19UCSC Ensembl
Cytoband7q36.2
Allele length
AssemblyAllele length
hg384347
hg194347
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615618
Supporting Variants
SamplesHG02798
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13031723
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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