A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14214024



Internal ID4215840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:75484379..75492628hg38UCSC Ensembl
Innerchr11:75484379..75492628hg38UCSC Ensembl
Outerchr11:75484194..75492776hg38UCSC Ensembl
chr11:75195424..75203673hg19UCSC Ensembl
Innerchr11:75195424..75203673hg19UCSC Ensembl
Outerchr11:75195239..75203821hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg388250
hg198250
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626855
Supporting Variants
SamplesNA18999
Known GenesGDPD5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14214024
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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