A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2497950



Internal ID8214824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:61339648..61341189hg38UCSC Ensembl
Outerchr11:61107120..61108661hg19UCSC Ensembl
Outerchr11:60863696..60865237hg18UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg381542
hg191542
hg181542
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5314174
SamplesNA18507
Known GenesDAK
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)esv2497950
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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