A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12913773



Internal ID5836849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:105287057..105290848hg38UCSC Ensembl
Innerchr7:105287122..105290784hg38UCSC Ensembl
Outerchr7:105286993..105290913hg38UCSC Ensembl
chr7:104927504..104931295hg19UCSC Ensembl
Innerchr7:104927569..104931231hg19UCSC Ensembl
Outerchr7:104927440..104931360hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg383792
hg193792
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614415
Supporting Variants
SamplesNA19210
Known GenesSRPK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12913773
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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