A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14683610



Internal ID4685426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:31751134..31754425hg38UCSC Ensembl
Innerchr13:31751184..31754375hg38UCSC Ensembl
Outerchr13:31751045..31754514hg38UCSC Ensembl
chr13:32325271..32328562hg19UCSC Ensembl
Innerchr13:32325321..32328512hg19UCSC Ensembl
Outerchr13:32325182..32328651hg19UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg383292
hg193292
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631704
Supporting Variants
SamplesHG02658
Known GenesRXFP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14683610
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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