A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11074786



Internal ID2253967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:97837412..97842145hg38UCSC Ensembl
Innerchr3:97837412..97842145hg38UCSC Ensembl
Outerchr3:97837286..97842323hg38UCSC Ensembl
chr3:97556256..97560989hg19UCSC Ensembl
Innerchr3:97556256..97560989hg19UCSC Ensembl
Outerchr3:97556130..97561167hg19UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg384734
hg194734
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597104
Supporting Variants
SamplesHG02017
Known GenesCRYBG3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11074786
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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