A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662516



Internal ID9928621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:17438064..17441680hg38UCSC Ensembl
chr6:17438295..17441911hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg383617
hg193617
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6083026, essv5760975, essv5874023, essv6325558, essv6417728, essv6354273, essv6278527, essv5716762, essv6517865, essv5983549, essv6487965, essv5797603, essv6548737, essv5469922, essv5622117, essv6255517, essv5435753, essv5641532, essv6571986, essv5539651, essv5431689, essv5406934, essv5407999, essv6116575, essv5529409, essv6411082, essv5594115, essv5781696, essv5430309, essv6597665, essv5704178, essv6249985, essv5427940
SamplesHG00626, HG00650, HG00442, NA18507, NA18917, NA19092, HG00179, NA18619, NA19383, NA19207, NA19075, NA19087, NA18908, HG00560, NA19462, NA19347, NA19236, NA18516, NA19982, NA19081, NA18548, HG00740, NA19114, NA18626, NA18856, NA19225, NA19434, NA19428, NA19116, NA19129, NA18488, NA19429, NA18620
Known GenesCAP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662516
Frequency
Sample Size1151
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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