A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593363



Internal ID6980687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:172437752..172439739hg38UCSC Ensembl
Innerchr2:172437752..172439739hg38UCSC Ensembl
Outerchr2:172437439..172440114hg38UCSC Ensembl
chr2:173302480..173304467hg19UCSC Ensembl
Innerchr2:173302480..173304467hg19UCSC Ensembl
Outerchr2:173302167..173304842hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg381988
hg191988
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10760583, essv10760614, essv10760599, essv10760587, essv10760612, essv10760591, essv10760602, essv10760609, essv10760582, essv10760584, essv10760585, essv10760588, essv10760598, essv10760595, essv10760615, essv10760607, essv10760594, essv10760605, essv10760596, essv10760604, essv10760600, essv10760580, essv10760589, essv10760603, essv10760606, essv10760597, essv10760611, essv10760586, essv10760613, essv10760593, essv10760590, essv10760610, essv10760592, essv10760601, essv10760581, essv10760608
SamplesHG00189, NA12842, HG00351, HG02262, HG00306, HG01944, HG00177, HG01459, HG00369, HG01365, HG00158, HG00379, HG01369, NA12777, HG01187, HG01200, HG00332, HG01345, HG00331, HG02259, NA19761, HG02286, HG01680, NA20828, HG00246, HG01363, NA12775, HG00366, NA19732, NA07051, HG00319, HG00339, HG00381, HG00186, HG01269, HG00255
Known GenesITGA6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593363
Frequency
Sample Size2504
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer