A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678574



Internal ID9944679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:154496315..154496513hg38UCSC Ensembl
chr6:154817449..154817647hg19UCSC Ensembl
Cytoband6q25.2
Allele length
AssemblyAllele length
hg38199
hg19199
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5711331, essv5636055, essv5633568, essv6303720, essv5492153, essv5700531, essv5544427, essv5548272, essv6104284, essv6543279, essv6250497, essv5806348, essv5454816, essv5414629, essv5955083, essv6217294, essv6059061, essv5624928, essv6377066, essv5757206, essv5475970, essv6338206, essv5750170, essv6242600, essv6534957, essv5668764, essv5854599, essv5580442, essv6039002, essv6445522, essv6220911, essv6307140, essv5434059, essv5760830, essv5946265, essv6394603, essv5675150, essv5902629, essv6041128, essv6011648, essv5826517, essv5684876, essv6415405, essv5602097, essv5498496, essv6522589
SamplesHG00650, HG01356, HG00143, HG00608, NA10851, NA11920, HG00257, HG00699, NA12058, HG00179, NA19190, HG00663, HG00272, HG01492, NA18618, NA07048, HG00247, HG00683, HG00325, NA19725, NA12828, HG00326, HG00419, HG00108, NA20818, HG00629, HG00556, HG00239, HG00324, HG00651, HG00690, NA11893, NA18608, HG00611, HG00256, NA19078, HG00111, HG00478, HG00656, HG00267, HG01254, HG01055, NA20510, NA18552, HG00595, HG01437
Known GenesCNKSR3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678574
Frequency
Sample Size1151
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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