A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670951



Internal ID9937056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150411410..150411740hg38UCSC Ensembl
chr1:150383886..150384216hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5933890, essv6536440, essv5450609, essv6112199, essv5845151, essv6544507, essv6177456, essv6400222, essv5565720, essv5765440, essv6594574, essv5962610, essv6286052, essv6588311, essv6053809, essv5728832, essv6404777, essv6008110, essv5424291, essv5584266, essv6594176, essv5926532, essv6119343, essv6462444, essv5535728, essv6540940, essv5530195, essv5584692, essv6056058, essv5710123, essv5872016, essv5490553, essv5699533, essv5646950, essv6280785, essv5497809, essv5446873, essv6592658, essv6442100, essv6267998, essv5931371, essv5432637, essv6244346, essv6219910, essv5519914, essv5788471, essv5722823, essv5659893, essv5987420, essv5825128, essv6085545, essv5764960, essv5973060, essv5964589, essv6396333, essv5653166, essv5399390, essv6133567, essv5703411, essv6117939, essv5414466, essv6075324, essv6413223, essv5743654
SamplesHG00114, NA19703, HG00249, HG01359, NA19914, HG01079, HG01374, HG01066, HG00315, HG00699, NA19377, HG00337, HG00327, NA07346, HG01250, NA18597, HG00346, HG00369, HG00334, HG00158, NA19404, HG00139, HG01067, HG00335, HG00325, HG01072, NA19372, HG00309, HG00159, HG00323, HG01124, HG01353, HG00154, HG00268, HG01187, HG00328, NA19462, NA19455, NA18516, HG00263, HG00275, NA18871, HG00324, HG00284, HG01073, HG00331, NA19452, NA18536, HG01107, HG00254, HG00375, HG01375, NA19083, HG01108, NA19818, HG00312, HG00342, HG00123, HG00310, HG00343, HG00274, HG00345, NA19463, HG00554
Known GenesRPRD2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670951
Frequency
Sample Size1151
Observed Gain0
Observed Loss64
Observed Complex0
Frequencyn/a


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