A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9846034



Internal ID1789764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6664260..6665127hg38UCSC Ensembl
Innerchr1:6664310..6665077hg38UCSC Ensembl
Outerchr1:6664173..6665214hg38UCSC Ensembl
chr1:6724320..6725187hg19UCSC Ensembl
Innerchr1:6724370..6725137hg19UCSC Ensembl
Outerchr1:6724233..6725274hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38868
hg19868
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585109
Supporting Variants
SamplesHG01672
Known GenesDNAJC11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9846034
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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