A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5312238



Internal ID8057287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:120174164..120176003hg38UCSC Ensembl
Outerchr3:119893011..119894850hg19UCSC Ensembl
Outerchr3:121375701..121377540hg18UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg381840
hg191840
hg181840
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2596469
Supporting Variants
SamplesNA18507
Known GenesGPR156
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)essv5312238
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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