A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5309496



Internal ID8401231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:1839575..1846021hg38UCSC Ensembl
Outerchr1:1771014..1777460hg19UCSC Ensembl
Outerchr1:1760874..1767320hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg386447
hg196447
hg186447
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2619193
Supporting Variants
SamplesNA18507
Known GenesGNB1
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)essv5309496
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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