A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585413



Internal ID6972937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:20080651..20084260hg38UCSC Ensembl
Innerchr1:20080701..20084206hg38UCSC Ensembl
Outerchr1:20080521..20084390hg38UCSC Ensembl
chr1:20407144..20410753hg19UCSC Ensembl
Innerchr1:20407194..20410699hg19UCSC Ensembl
Outerchr1:20407014..20410883hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg383610
hg193610
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9879600, essv9879631, essv9879628, essv9879622, essv9879611, essv9879607, essv9879605, essv9879602, essv9879609, essv9879608, essv9879599, essv9879593, essv9879637, essv9879601, essv9879629, essv9879589, essv9879592, essv9879630, essv9879603, essv9879619, essv9879604, essv9879640, essv9879615, essv9879632, essv9879638, essv9879612, essv9879614, essv9879641, essv9879598, essv9879616, essv9879635, essv9879588, essv9879623, essv9879590, essv9879624, essv9879618, essv9879594, essv9879597, essv9879627, essv9879639, essv9879626, essv9879621, essv9879634, essv9879617, essv9879596, essv9879606, essv9879633, essv9879625, essv9879595, essv9879610, essv9879636, essv9879591, essv9879613, essv9879620
SamplesNA18924, NA19399, HG03517, HG03247, NA18507, NA18881, NA18877, HG03558, HG03115, HG02536, NA19190, NA19201, HG02595, HG03246, HG02703, HG02573, NA19137, HG02946, HG03073, NA19209, HG02623, NA19200, HG01524, HG02820, HG03363, HG02582, HG01882, NA18871, HG03027, NA19654, HG03123, HG03382, HG03136, NA19318, NA19390, HG03240, NA18517, HG02759, HG02721, HG01915, HG02941, HG03084, NA19248, HG03097, HG03025, HG02646, HG03077, NA19900, HG02052, HG02763, NA19129, HG02465, NA19463, HG03439
Known GenesPLA2G5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585413
Frequency
Sample Size2504
Observed Gain0
Observed Loss54
Observed Complex0
Frequencyn/a


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