A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2436771



Internal ID1467311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:224137..226473hg38UCSC Ensembl
Outerchr7:224137..226473hg19UCSC Ensembl
Outerchr7:319220..321556hg18UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg382337
hg192337
hg182337
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5180500
SamplesNA18507
Known GenesFAM20C
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)esv2436771
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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