A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5358153



Internal ID8449888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:116201829..116203418hg38UCSC Ensembl
Outerchr7:115841883..115843472hg19UCSC Ensembl
Outerchr7:115629119..115630708hg18UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg381590
hg191590
hg181590
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2503153
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)essv5358153
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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