A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674897



Internal ID9594316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:60174839..60175213hg38UCSC Ensembl
chr11:59942312..59942686hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg38375
hg19375
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5781933, essv5428330, essv5430071, essv6513474, essv5966547, essv5641604, essv6015604, essv5683646, essv5673349, essv6581262, essv6313119, essv6044681, essv5998859, essv6085789, essv6522068
SamplesNA19746, NA18567, NA19731, NA18638, HG01136, NA19056, NA18630, HG00525, NA18963, NA18943, HG00672, NA19726, HG01377, HG00595, HG01125
Known GenesMS4A6A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674897
Frequency
Sample Size1151
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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