A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593492



Internal ID6633772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178651951..178664036hg38UCSC Ensembl
Innerchr2:178651951..178664036hg38UCSC Ensembl
Outerchr2:178651451..178664536hg38UCSC Ensembl
chr2:179516678..179528763hg19UCSC Ensembl
Innerchr2:179516678..179528763hg19UCSC Ensembl
Outerchr2:179516178..179529263hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3812086
hg1912086
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10779211, essv10779190, essv10779207, essv10779201, essv10779205, essv10779214, essv10779204, essv10779212, essv10779206, essv10779183, essv10779209, essv10779192, essv10779208, essv10779213, essv10779200, essv10779186, essv10779203, essv10779199, essv10779181, essv10779188, essv10779184, essv10779187, essv10779193, essv10779189, essv10779198, essv10779196, essv10779182, essv10779197, essv10779194, essv10779191, essv10779210, essv10779185, essv10779202, essv10779195, essv10779180
SamplesNA18745, NA21110, HG02496, HG02002, HG01348, NA19795, NA18639, NA20298, NA19443, HG00097, HG02285, HG02105, HG01277, NA18619, HG02085, HG00311, HG02278, NA18749, HG01628, HG02104, HG01275, NA18747, HG02084, NA18939, HG01345, NA19752, HG01625, HG03598, HG02089, HG01272, NA12873, NA12874, NA19117, NA19146, NA19214
Known GenesMIR548N, TTN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593492
Frequency
Sample Size2504
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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