A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585009



Internal ID6972534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1663929..1681002hg38UCSC Ensembl
chr1:1595368..1612441hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3817074
hg1917074
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9841010, essv9841022, essv9841002, essv9841023, essv9841017, essv9841015, essv9841004, essv9841003, essv9841018, essv9841000, essv9841013, essv9841019, essv9841016, essv9841001, essv9841011, essv9841012, essv9841014, essv9841024, essv9841006, essv9841008, essv9841005, essv9841009, essv9841021, essv9841007, essv9841020
SamplesHG00608, HG00766, HG00641, NA19723, HG03885, NA18582, NA20819, HG02224, HG02190, HG01810, NA18566, NA20866, HG01204, HG01812, NA18542, HG03833, HG02010, HG01878, HG01174, HG00237, HG00116, HG01801, HG00614, HG01577, HG02052
Known GenesCDK11B, SLC35E2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585009
Frequency
Sample Size2504
Observed Gain25
Observed Loss0
Observed Complex0
Frequencyn/a


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