A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595045



Internal ID6635320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:2972791..2973863hg38UCSC Ensembl
Innerchr3:2972792..2973863hg38UCSC Ensembl
Outerchr3:2972791..2973864hg38UCSC Ensembl
chr3:3014475..3015547hg19UCSC Ensembl
Innerchr3:3014476..3015547hg19UCSC Ensembl
Outerchr3:3014475..3015548hg19UCSC Ensembl
Cytoband3p26.2
Allele length
AssemblyAllele length
hg381073
hg191073
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10901960, essv10901938, essv10901942, essv10901951, essv10901957, essv10901948, essv10901953, essv10901958, essv10901944, essv10901935, essv10901959, essv10901949, essv10901955, essv10901936, essv10901943, essv10901937, essv10901947, essv10901939, essv10901946, essv10901952, essv10901956, essv10901954, essv10901941, essv10901945, essv10901934, essv10901940, essv10901950
SamplesNA19466, NA19332, NA19393, HG03099, NA19197, HG03209, NA12044, NA19024, NA19189, NA19025, NA18867, NA19210, NA19462, HG03571, NA19395, HG02594, HG01204, HG01896, NA19436, NA20296, NA19834, NA19712, NA19454, NA19310, HG03039, HG03351, NA19129
Known GenesCNTN4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595045
Frequency
Sample Size2504
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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