A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587419



Internal ID6627723
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10113671, essv10113669, essv10113670
SamplesNA18993, HG02390, NA21095
Known GenesGNRHR2, ITGA10, LOC100288142, NBPF10, PEX11B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587419
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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