A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669750



Internal ID9935855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:57050970..57051674hg38UCSC Ensembl
chr6:56915768..56916472hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38705
hg19705
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6402741, essv5507848, essv5626324, essv6386152, essv5487230, essv5608475, essv5939290, essv6275556, essv5991693, essv6070804, essv6329672, essv5885749, essv6375201, essv6469158, essv6207993, essv5545294
SamplesNA19394, NA19700, NA19190, NA18916, NA19457, NA19904, NA19437, NA18516, NA18910, NA19436, NA19390, NA19712, NA19376, NA19398, NA19900, NA18487
Known GenesKIAA1586
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669750
Frequency
Sample Size1151
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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