A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598236



Internal ID6985372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:153747233..153752400hg38UCSC Ensembl
Innerchr3:153747233..153752400hg38UCSC Ensembl
Outerchr3:153746737..153752765hg38UCSC Ensembl
chr3:153465022..153470189hg19UCSC Ensembl
Innerchr3:153465022..153470189hg19UCSC Ensembl
Outerchr3:153464526..153470554hg19UCSC Ensembl
Cytoband3q25.2
Allele length
AssemblyAllele length
hg385168
hg195168
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11190011, essv11189989, essv11189988, essv11190015, essv11190003, essv11189976, essv11190010, essv11190004, essv11189997, essv11189987, essv11190006, essv11190007, essv11189977, essv11190017, essv11189995, essv11190020, essv11189969, essv11190001, essv11189985, essv11189986, essv11189972, essv11189975, essv11189981, essv11190002, essv11190018, essv11189974, essv11189998, essv11190014, essv11189968, essv11190005, essv11189982, essv11189980, essv11190009, essv11189983, essv11189993, essv11189978, essv11189984, essv11190008, essv11189996, essv11190013, essv11189992, essv11190019, essv11190016, essv11189991, essv11190012, essv11189973, essv11189979, essv11190000, essv11189999, essv11189970, essv11189990, essv11189994, essv11189971
SamplesHG01986, NA19701, HG02944, HG02318, NA18504, NA20346, HG01924, NA19201, HG03168, HG03135, HG02952, NA19307, HG02549, NA19922, NA19923, HG02315, NA19209, NA18867, NA19462, NA18933, NA19455, HG02450, HG02144, NA18907, NA19449, HG03382, HG02881, HG03024, NA19395, HG01896, HG01444, HG02667, NA19256, HG02759, NA20276, HG02501, HG02983, HG02923, HG03432, HG02970, NA19223, NA19351, NA19468, HG02938, NA18873, NA19711, HG02763, HG01431, NA18488, NA19312, HG03129, HG02343, NA19214
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598236
Frequency
Sample Size2504
Observed Gain0
Observed Loss53
Observed Complex0
Frequencyn/a


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