A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676475



Internal ID9942580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:191130349..191133929hg38UCSC Ensembl
chr2:191995075..191998655hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg383581
hg193581
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6237905, essv6595464, essv6183839, essv6298314, essv6406874, essv6343391, essv6319606, essv5793157, essv6465819, essv5570399, essv5613875, essv6148236, essv6123392, essv6376817, essv5461874, essv6249122, essv6107220, essv5414552
SamplesNA19704, NA19350, NA19092, HG01140, NA07347, NA19904, NA19456, NA20818, NA19236, NA18516, NA18910, NA19449, NA19225, NA19375, HG01190, NA19474, NA19711, NA19900
Known GenesSTAT4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676475
Frequency
Sample Size1151
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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