A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5227292



Internal ID7972341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:202768298..202769623hg38UCSC Ensembl
Outerchr2:203633021..203634346hg19UCSC Ensembl
Outerchr2:203341266..203342591hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg381326
hg191326
hg181326
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2579724
Supporting Variants
SamplesNA18507
Known GenesFAM117B
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)essv5227292
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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