A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9841976



Internal ID6467269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3611044..3637348hg38UCSC Ensembl
chr1:3527608..3553912hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3826305
hg1926305
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585044
Supporting Variants
SamplesNA20872
Known GenesMEGF6, TPRG1L, WRAP73
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9841976
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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