A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9952940



Internal ID6578233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:64420465..64489064hg38UCSC Ensembl
Innerchr1:64420465..64489064hg38UCSC Ensembl
Outerchr1:64419965..64489564hg38UCSC Ensembl
chr1:64886148..64954747hg19UCSC Ensembl
Innerchr1:64886148..64954747hg19UCSC Ensembl
Outerchr1:64885648..64955247hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3868600
hg1968600
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586265
Supporting Variants
SamplesHG00704
Known GenesCACHD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9952940
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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