A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591749



Internal ID6979077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:100201778..100202375hg38UCSC Ensembl
Innerchr2:100201891..100202262hg38UCSC Ensembl
Outerchr2:100201665..100202488hg38UCSC Ensembl
chr2:100818240..100818837hg19UCSC Ensembl
Innerchr2:100818353..100818724hg19UCSC Ensembl
Outerchr2:100818127..100818950hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38598
hg19598
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10597204, essv10597215, essv10597199, essv10597234, essv10597208, essv10597236, essv10597233, essv10597206, essv10597238, essv10597228, essv10597237, essv10597224, essv10597223, essv10597210, essv10597200, essv10597218, essv10597203, essv10597205, essv10597230, essv10597225, essv10597227, essv10597211, essv10597201, essv10597232, essv10597219, essv10597239, essv10597220, essv10597209, essv10597235, essv10597217, essv10597231, essv10597222, essv10597207, essv10597216, essv10597202, essv10597221, essv10597212, essv10597214, essv10597229, essv10597213, essv10597226, essv10597240
SamplesHG02973, HG03175, HG03115, NA18486, HG02804, HG03521, HG03280, NA19393, NA18504, HG03478, HG03464, NA18519, NA19130, NA20278, NA18868, NA20412, HG02545, NA20342, NA19209, HG02477, NA18867, HG03132, HG02878, NA19449, NA18499, NA19099, NA19257, HG02255, HG02455, NA19037, NA19428, NA19360, HG03112, HG02970, HG01912, NA19223, NA18876, NA18505, HG02805, NA18522, NA19431, HG03196
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591749
Frequency
Sample Size2504
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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