A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5387757



Internal ID8132806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:180307191..180308526hg38UCSC Ensembl
Outerchr1:180276326..180277661hg19UCSC Ensembl
Outerchr1:178542949..178544284hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg381336
hg191336
hg181336
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2650355
Supporting Variants
SamplesNA18507
Known GenesACBD6
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)essv5387757
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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