A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588897



Internal ID6976313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220263031..220267544hg38UCSC Ensembl
Innerchr1:220263032..220267543hg38UCSC Ensembl
Outerchr1:220263030..220267545hg38UCSC Ensembl
chr1:220436373..220440886hg19UCSC Ensembl
Innerchr1:220436374..220440885hg19UCSC Ensembl
Outerchr1:220436372..220440887hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg384514
hg194514
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10298203, essv10298191, essv10298199, essv10298210, essv10298194, essv10298185, essv10298204, essv10298172, essv10298197, essv10298200, essv10298201, essv10298205, essv10298196, essv10298211, essv10298175, essv10298171, essv10298173, essv10298183, essv10298176, essv10298166, essv10298198, essv10298184, essv10298180, essv10298170, essv10298188, essv10298206, essv10298190, essv10298182, essv10298167, essv10298165, essv10298178, essv10298177, essv10298164, essv10298168, essv10298195, essv10298169, essv10298189, essv10298208, essv10298161, essv10298163, essv10298186, essv10298193, essv10298179, essv10298207, essv10298187, essv10298181, essv10298192, essv10298202, essv10298162, essv10298209, essv10298174, essv10298212
SamplesHG00650, HG00559, NA18980, HG02029, NA18599, HG00699, HG02154, NA19068, HG01853, NA18595, HG00599, NA18635, NA18558, NA18574, HG03826, HG00867, HG01813, HG02187, HG01849, HG00534, NA19075, NA19002, NA18557, NA18538, HG01867, HG02152, NA19086, HG00584, HG00533, NA18566, HG02048, HG00684, NA19059, NA18555, NA18531, NA18541, HG01812, NA18632, NA18533, NA18559, NA19749, HG01866, HG00662, NA19078, HG00707, HG02700, NA19060, NA19080, HG00472, HG00628, NA18612, HG02060
Known GenesAURKAPS1, RAB3GAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588897
Frequency
Sample Size2504
Observed Gain0
Observed Loss52
Observed Complex0
Frequencyn/a


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