A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2632878



Internal ID3465135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:75626269..75627743hg19UCSC Ensembl
Outerchr1:75398857..75400331hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg19192
hg18192
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv5375534
SamplesNA18507
Known GenesLHX8
Method
Analysis
PlatformAB SOLiD 2BE Sequencing
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)esv2632878
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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