A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661645



Internal ID9581064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180259322..180261317hg38UCSC Ensembl
chr1:180228457..180230452hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg381996
hg191996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5590641, essv6348390, essv5783158, essv5449141, essv6442623, essv5785321, essv5452576, essv5854477, essv6325173, essv5683157, essv6307773, essv6132199, essv5815216, essv6187001, essv5735217, essv6510168, essv6247033, essv5683902, essv5811000, essv5931266, essv6423833
SamplesNA19152, NA07347, NA18871, NA11918, NA18511, NA18516, NA18953, NA19449, NA19467, NA18508, NA19900, NA18956, NA19440, NA12892, NA19372, NA18522, HG01069, NA18907, NA18867, NA19350, NA19439
Known GenesLHX4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661645
Frequency
Sample Size1151
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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