A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3611210



Internal ID6998121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:149626381..149628209hg38UCSC Ensembl
Innerchr6:149626444..149628147hg38UCSC Ensembl
Outerchr6:149626319..149628272hg38UCSC Ensembl
chr6:149947517..149949345hg19UCSC Ensembl
Innerchr6:149947580..149949283hg19UCSC Ensembl
Outerchr6:149947455..149949408hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg381829
hg191829
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12580944, essv12580949, essv12580950, essv12580959, essv12580964, essv12580947, essv12580960, essv12580967, essv12580968, essv12580961, essv12580948, essv12580951, essv12580958, essv12580957, essv12580963, essv12580965, essv12580945, essv12580954, essv12580966, essv12580955, essv12580943, essv12580952, essv12580970, essv12580956, essv12580969, essv12580953, essv12580946, essv12580962
SamplesHG02574, HG03449, HG02323, NA20332, NA19377, NA19443, NA20356, HG02895, NA20320, NA19922, HG02573, NA19238, HG03195, HG02471, HG02442, HG03081, HG01049, HG03064, HG03367, HG02501, HG02308, HG03469, NA19475, NA20348, NA19102, NA19146, NA19316, HG03439
Known GenesKATNA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3611210
Frequency
Sample Size2504
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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