A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2637301



Internal ID8700859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:140074047..140138520hg38UCSC Ensembl
OuterchrX:139156206..139220679hg19UCSC Ensembl
OuterchrX:138983872..139048345hg18UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg3864474
hg1964474
hg1864474
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5233736
SamplesNA18507
Known GenesLOC389895
MethodSequencing
AnalysisLarger insertions and deletions are found by looking at variation in mate pair distances in the 2x50 mate pair libraries. These data are included in separate files for each of three coverage values: 2.2x, 4.0x, 5.6x, and 8.4x
PlatformNot specified
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)esv2637301
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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