A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2463453



Internal ID8180325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:152707753..152712872hg38UCSC Ensembl
Outerchr6:153028888..153034007hg19UCSC Ensembl
Outerchr6:153070581..153075700hg18UCSC Ensembl
Cytoband6q25.2
Allele length
AssemblyAllele length
hg385120
hg195120
hg185120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5392350
SamplesNA18507
Known GenesMYCT1
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)esv2463453
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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