A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675997



Internal ID9942102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:148999591..148999812hg38UCSC Ensembl
chr6:149320727..149320948hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38222
hg19222
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5938552, essv5445686, essv5419285, essv6543435, essv5768966, essv5518889, essv6331629, essv6494910, essv5564179, essv5486158, essv5615792, essv5969506, essv5769824, essv5463789, essv5504689, essv6570572, essv6239810, essv6489223, essv5402771, essv5461371, essv6358742, essv5816683, essv6085272, essv5613930, essv6036650, essv6133714, essv5733542, essv5464684, essv6518914, essv5545775, essv6590052, essv6082423, essv6339015, essv6227143, essv6241940, essv5631400, essv6254742, essv6432565
SamplesHG01060, NA19703, NA20514, NA11920, NA20531, NA11931, NA12045, HG00737, NA12413, HG00173, NA20540, NA20513, HG00185, NA20541, NA11930, HG00281, NA12282, NA19651, HG00156, HG00133, HG00268, HG01498, HG00551, NA11894, NA19685, HG00254, HG00285, HG00375, NA12272, NA20778, HG00256, NA12763, HG00269, NA12749, HG00112, HG00274, HG00345, NA12006
Known GenesUST
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675997
Frequency
Sample Size1151
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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