A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5193835



Internal ID8285570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:156153980..156156305hg38UCSC Ensembl
Outerchr7:155946674..155948999hg19UCSC Ensembl
Outerchr7:155639435..155641760hg18UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg382326
hg192326
hg182326
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2573621
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)essv5193835
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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