A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12987717



Internal ID2742189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:142618728..142634741hg38UCSC Ensembl
Innerchr7:142618728..142634741hg38UCSC Ensembl
Outerchr7:142618728..142635241hg38UCSC Ensembl
chr7:142326224..142342257hg19UCSC Ensembl
Innerchr7:142326224..142342257hg19UCSC Ensembl
Outerchr7:142325724..142342757hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3816014
hg1916034
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615283
Supporting Variants
SamplesHG02408
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12987717
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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