A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594646



Internal ID6634922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232368198..232411925hg38UCSC Ensembl
Innerchr2:232368216..232411907hg38UCSC Ensembl
Outerchr2:232368180..232411943hg38UCSC Ensembl
chr2:233232908..233276635hg19UCSC Ensembl
Innerchr2:233232926..233276617hg19UCSC Ensembl
Outerchr2:233232890..233276653hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3843728
hg1943728
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10876808, essv10876810, essv10876809, essv10876820, essv10876821, essv10876814, essv10876806, essv10876812, essv10876819, essv10876804, essv10876817, essv10876816, essv10876807, essv10876805, essv10876813, essv10876815, essv10876818, essv10876811
SamplesHG03705, NA20752, HG03973, NA20894, NA20845, HG03687, NA20849, HG03871, HG03079, HG03600, HG03673, HG02307, NA21095, NA21101, HG04022, HG03771, NA19752, NA19439
Known GenesALPP, ALPPL2, ECEL1P2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594646
Frequency
Sample Size2504
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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