A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668442



Internal ID9934547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:140412517..140420873hg38UCSC Ensembl
chrX:139494682..139503038hg19UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg388357
hg198357
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1402e199
Supporting Variantsessv6366008, essv6554985, essv5652594, essv6396583, essv5668821, essv6101416, essv6100664, essv6289730
SamplesNA12889, HG01171, NA20524, NA19436, NA19434, NA20803, NA19713, HG00595
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668442
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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