A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674815



Internal ID9940920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:92112536..92113796hg38UCSC Ensembl
chrX:91367535..91368795hg19UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg381261
hg191261
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6260727, essv6256400, essv6161737, essv5806333, essv5848867, essv6443170, essv5996572, essv5653082, essv5532177, essv5566352, essv6146254, essv5651259, essv5923240, essv6419960, essv6124280, essv5786566, essv6549205, essv5416922, essv5465265, essv5999550, essv6475414, essv6325006, essv5940831, essv6200560, essv6264332, essv5537725, essv6099371
SamplesNA19701, NA19914, NA19332, NA19350, NA19359, NA18870, NA18489, NA19448, NA19916, NA19904, NA19238, NA19462, NA19347, NA19982, NA18499, NA19099, NA19469, NA19395, NA19390, NA19256, NA19240, NA19439, NA19311, NA19438, NA19093, NA19430, HG01082
Known GenesPCDH11X
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674815
Frequency
Sample Size1151
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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