A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585338



Internal ID6972862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16424708..16428684hg38UCSC Ensembl
Innerchr1:16424715..16428678hg38UCSC Ensembl
Outerchr1:16424702..16428691hg38UCSC Ensembl
chr1:16751203..16755179hg19UCSC Ensembl
Innerchr1:16751210..16755173hg19UCSC Ensembl
Outerchr1:16751197..16755186hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg383977
hg193977
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9865183, essv9865182, essv9865178, essv9865177, essv9865180, essv9865185, essv9865192, essv9865184, essv9865187, essv9865199, essv9865194, essv9865181, essv9865179, essv9865186, essv9865190, essv9865197, essv9865193, essv9865191, essv9865176, essv9865196, essv9865198, essv9865189, essv9865201, essv9865188, essv9865195, essv9865202, essv9865200
SamplesHG00524, NA18561, NA18639, NA18596, NA18633, NA18969, HG00663, NA18967, HG00622, HG00448, HG02155, NA18574, HG00632, NA19087, HG02073, NA18557, HG02075, HG02513, NA18548, NA19003, NA18643, HG01028, HG02032, NA18994, HG01799, HG00728, NA18997
Known GenesSPATA21
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585338
Frequency
Sample Size2504
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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