A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10113670



Internal ID115486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145893340..145919968hg38UCSC Ensembl
chr1:145515121..145541736hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3826629
hg1926616
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587419
Supporting Variants
SamplesNA18993
Known GenesGNRHR2, ITGA10, LOC100288142, NBPF10, PEX11B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10113670
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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