A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11655455



Internal ID1657271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:152645702..152685976hg38UCSC Ensembl
Innerchr4:152645852..152685826hg38UCSC Ensembl
Outerchr4:152645552..152686126hg38UCSC Ensembl
chr4:153566854..153607128hg19UCSC Ensembl
Innerchr4:153567004..153606978hg19UCSC Ensembl
Outerchr4:153566704..153607278hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg3840275
hg1940275
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602709
Supporting Variants
SamplesHG03875
Known GenesTMEM154
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11655455
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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