A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14796499



Internal ID3336802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:74426086..74432370hg38UCSC Ensembl
Innerchr13:74426088..74432369hg38UCSC Ensembl
Outerchr13:74426085..74432372hg38UCSC Ensembl
chr13:75000223..75006507hg19UCSC Ensembl
Innerchr13:75000225..75006506hg19UCSC Ensembl
Outerchr13:75000222..75006509hg19UCSC Ensembl
Cytoband13q22.1
Allele length
AssemblyAllele length
hg386285
hg196285
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632724
Supporting Variants
SamplesHG02977
Known GenesLINC00381
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14796499
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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