A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585127



Internal ID6972651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:7585665..7588393hg38UCSC Ensembl
Innerchr1:7585670..7588389hg38UCSC Ensembl
Outerchr1:7585661..7588398hg38UCSC Ensembl
chr1:7645725..7648453hg19UCSC Ensembl
Innerchr1:7645730..7648449hg19UCSC Ensembl
Outerchr1:7645721..7648458hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg382729
hg192729
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9847483, essv9847481, essv9847480, essv9847492, essv9847490, essv9847478, essv9847485, essv9847477, essv9847487, essv9847488, essv9847486, essv9847479, essv9847489, essv9847491, essv9847484, essv9847482
SamplesNA19399, HG02433, NA20346, NA19374, HG02485, NA19916, NA19383, NA19026, NA19456, HG01247, HG02450, HG03136, NA19035, HG02546, HG01894, NA19093
Known GenesCAMTA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585127
Frequency
Sample Size2504
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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