A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5294872



Internal ID8386607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:138177013..138178506hg38UCSC Ensembl
Outerchr7:137861759..137863252hg19UCSC Ensembl
Outerchr7:137512299..137513792hg18UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg381494
hg191494
hg181494
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2627399
Supporting Variants
SamplesNA18507
Known Genes
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)essv5294872
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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