A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5393187



Internal ID8484922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:85253649..85255303hg38UCSC Ensembl
OuterchrX:84508655..84510309hg19UCSC Ensembl
OuterchrX:84395311..84396965hg18UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg381655
hg191655
hg181655
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2466752
Supporting Variants
SamplesNA18507
Known GenesZNF711
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)essv5393187
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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