A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv250e214



Internal ID20121673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10416900..10436705hg38UCSC Ensembl
chr12:10569499..10589304hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3819806
hg1919806
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3628536, esv3628537
SamplesHG01864, HG02879, HG01610, HG03135, HG00881, HG02477, HG01813, HG00537, HG02250, HG03064, HG03940, HG03084, HG01882, HG03563, HG02799, NA19149, HG00310, HG01098, NA18993, HG03057, HG03133, HG01492, HG02887, HG00173, HG00148, HG03048, HG02314, HG02497, HG02676, HG02790, NA19320, NA19701, HG01871, NA19084, HG03812, NA20320, HG02585, HG00556, NA19982, HG01086, NA19085, HG04206, NA18627, HG01510, HG01796, NA18566, NA19057, HG02233, HG00759, NA12762, HG00330, HG03727, HG02016, HG03052, HG02763, HG03024, HG00637, HG03603, HG01187, HG02756, HG02941, NA19000, HG00844, HG01810, HG03126, HG02325, NA19375, HG01989, HG00382, NA18939, HG00255, NA20753, HG00851, HG02804, NA18941, NA19664, HG03097, HG02651, NA19001, HG00524, HG03069, NA20821, HG03577, NA19711, HG02586, HG02624, HG03132, NA18940, NA18597, NA12272, HG02067, HG02635, NA19078, NA19201, HG02645, NA20799, NA12812, HG02075, HG02481, NA20513, NA18864, HG03081, HG02465, HG03074, HG03259, HG03258, HG01912, NA20359, HG03077, HG00251, HG00320, NA20904, HG00183, HG02798, HG02574, NA19185, HG03826, HG02332, HG04182, NA18519, HG01198, HG03082
Known GenesKLRC2, KLRC3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv250e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss122
Observed Complex0
Frequencyn/a


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