A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633758



Internal ID7020565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:22612331..22614962hg38UCSC Ensembl
Innerchr14:22612381..22614912hg38UCSC Ensembl
Outerchr14:22612276..22615017hg38UCSC Ensembl
chr14:23081237..23083865hg19UCSC Ensembl
Innerchr14:23081287..23083815hg19UCSC Ensembl
Outerchr14:23081182..23083920hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg382632
hg192629
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14934688, essv14934689
SamplesHG03195, HG02284
Known GenesABHD4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633758
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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