A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9892044



Internal ID6517338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:24751454..24756229hg38UCSC Ensembl
Innerchr1:24751463..24756220hg38UCSC Ensembl
Outerchr1:24751445..24756238hg38UCSC Ensembl
chr1:25077945..25082720hg19UCSC Ensembl
Innerchr1:25077954..25082711hg19UCSC Ensembl
Outerchr1:25077936..25082729hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg384776
hg194776
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585512
Supporting Variants
SamplesHG02570
Known GenesCLIC4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9892044
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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