A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5264336



Internal ID8356071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:36956917..36957704hg38UCSC Ensembl
Outerchr1:37422518..37423305hg19UCSC Ensembl
Outerchr1:37195105..37195892hg18UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38445
hg19445
hg18445
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2538711
Supporting Variants
SamplesNA18507
Known GenesGRIK3
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)essv5264336
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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