A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2553510



Internal ID8270382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:152068358..152071854hg38UCSC Ensembl
Outerchr6:152389493..152392989hg19UCSC Ensembl
Outerchr6:152431186..152434682hg18UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg383497
hg193497
hg183497
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5281067
SamplesNA18507
Known GenesESR1
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)esv2553510
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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