A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10901966



Internal ID903782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:3009870..3013803hg38UCSC Ensembl
Innerchr3:3009870..3013803hg38UCSC Ensembl
Outerchr3:3009746..3014085hg38UCSC Ensembl
chr3:3051554..3055487hg19UCSC Ensembl
Innerchr3:3051554..3055487hg19UCSC Ensembl
Outerchr3:3051430..3055769hg19UCSC Ensembl
Cytoband3p26.2
Allele length
AssemblyAllele length
hg383934
hg193934
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595048
Supporting Variants
SamplesHG00269
Known GenesCNTN4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10901966
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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