A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5325551



Internal ID8417286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:93224076..93225477hg38UCSC Ensembl
Outerchr7:92853389..92854790hg19UCSC Ensembl
Outerchr7:92691325..92692726hg18UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg381402
hg191402
hg181402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2581618
Supporting Variants
SamplesNA18507
Known GenesHEPACAM2
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)essv5325551
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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