A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608192



Internal ID6648431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:16258940..16264662hg38UCSC Ensembl
chr6:16259171..16264893hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg385723
hg195723
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12200626, essv12200636, essv12200638, essv12200625, essv12200642, essv12200637, essv12200618, essv12200624, essv12200615, essv12200639, essv12200621, essv12200617, essv12200619, essv12200635, essv12200633, essv12200630, essv12200631, essv12200640, essv12200616, essv12200628, essv12200634, essv12200620, essv12200622, essv12200641, essv12200623, essv12200627, essv12200632, essv12200629, essv12200643
SamplesHG01250, NA19783, HG01277, HG02260, HG02146, NA19651, HG02150, HG01982, HG02292, HG01395, HG01124, HG01977, HG02348, NA19728, HG01437, NA19759, NA19771, HG03660, HG01369, HG02266, HG04235, HG01566, NA19723, HG03771, HG02252, HG02089, HG01102, HG02051, NA19758
Known GenesGMPR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608192
Frequency
Sample Size2504
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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