A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2504283



Internal ID8567841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:77249228..77250728hg38UCSC Ensembl
Outerchr7:76878545..76880045hg19UCSC Ensembl
Outerchr7:76716481..76717981hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg381501
hg191501
hg181501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5212412
SamplesNA18507
Known GenesCCDC146
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)esv2504283
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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