A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12910001



Internal ID1810502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:101231569..101248238hg38UCSC Ensembl
chr7:100874850..100891519hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3816670
hg1916670
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614323
Supporting Variants
SamplesHG01684
Known GenesCLDN15, FIS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12910001
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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