A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5345164



Internal ID8436899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:6940356..6941186hg38UCSC Ensembl
Outerchr1:7000416..7001246hg19UCSC Ensembl
Outerchr1:6923003..6923833hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38357
hg19357
hg18357
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2556451
Supporting Variants
SamplesNA18507
Known GenesCAMTA1
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)essv5345164
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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