A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5330606



Internal ID8075655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:137921553..137922988hg38UCSC Ensembl
Outerchr7:137606299..137607734hg19UCSC Ensembl
Outerchr7:137256839..137258274hg18UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg381436
hg191436
hg181436
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2595133
Supporting Variants
SamplesNA18507
Known GenesCREB3L2
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)essv5330606
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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