A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595023



Internal ID6635298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:2278754..2279201hg38UCSC Ensembl
Innerchr3:2278754..2279201hg38UCSC Ensembl
Outerchr3:2278447..2279523hg38UCSC Ensembl
chr3:2320438..2320885hg19UCSC Ensembl
Innerchr3:2320438..2320885hg19UCSC Ensembl
Outerchr3:2320131..2321207hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38448
hg19448
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10899526, essv10899549, essv10899550, essv10899529, essv10899544, essv10899519, essv10899533, essv10899535, essv10899539, essv10899523, essv10899540, essv10899554, essv10899541, essv10899522, essv10899537, essv10899536, essv10899524, essv10899542, essv10899525, essv10899552, essv10899528, essv10899527, essv10899551, essv10899530, essv10899548, essv10899547, essv10899520, essv10899531, essv10899534, essv10899546, essv10899532, essv10899516, essv10899538, essv10899521, essv10899517, essv10899545, essv10899518, essv10899553, essv10899555, essv10899543, essv10899556
SamplesNA19146, NA19312, HG03160, HG03354, NA19321, NA18523, HG02799, HG03196, HG02255, HG03301, NA18877, HG01990, NA19474, HG03457, NA19028, HG03162, NA19428, NA19383, HG03300, HG02643, NA19429, HG02143, NA19190, HG03085, NA20348, HG02804, HG02938, HG03428, NA19307, NA19462, NA19235, NA19201, NA18867, NA19434, HG02702, NA18499, NA19916, HG02721, NA19346, HG03372, NA18519
Known GenesCNTN4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595023
Frequency
Sample Size2504
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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