A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5197626



Internal ID7942675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:75032271..75033469hg38UCSC Ensembl
Outerchr14:75498974..75500172hg19UCSC Ensembl
Outerchr14:74568727..74569925hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38172
hg19172
hg18172
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2489629
Supporting Variants
SamplesNA18507
Known GenesMLH3
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)essv5197626
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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