A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10246936



Internal ID248752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196661872..196664090hg38UCSC Ensembl
Innerchr1:196661872..196664090hg38UCSC Ensembl
Outerchr1:196661746..196664183hg38UCSC Ensembl
chr1:196631002..196633220hg19UCSC Ensembl
Innerchr1:196631002..196633220hg19UCSC Ensembl
Outerchr1:196630876..196633313hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg382219
hg192219
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588467
Supporting Variants
SamplesNA19704
Known GenesCFH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10246936
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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